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  3. SNRPB
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Clefting

Gene: SNRPB

Green List (high evidence)
SNRPB (small nuclear ribonucleoprotein polypeptides B and B1)
EnsemblGeneIds (GRCh38): ENSG00000125835
EnsemblGeneIds (GRCh37): ENSG00000125835
OMIM: 182282, Gene2Phenotype
SNRPB is in 5 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CEREBROCOSTOMANDIBULAR SYNDROME; CCMS

Publications

Created: 26 May 2017, 7:39 a.m.

Panel version: 0.193

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • CEREBROCOSTOMANDIBULAR SYNDROME
  • CCMS
  • Cleft palate
OMIM
182282
Clinvar variants
Variants in SNRPB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SNRPB. Panel: Clefting Phenotypes for gene SNRPB were set to CEREBROCOSTOMANDIBULAR SYNDROME, CCMS, Cleft palate

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SNRPB was added to Cleftingpanel. Sources: Expert Review Green

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SNRPB was created by ellenmcdonagh